Ask about this productRelated genes to: CD56 antibody
- Gene:
- NCAM1 NIH gene
- Name:
- neural cell adhesion molecule 1
- Previous symbol:
- -
- Synonyms:
- NCAM, CD56
- Chromosome:
- 11q23.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2014-11-19
Related products to: CD56 antibody
Related articles to: CD56 antibody
- - Source: PubMed
Publication date: 2026/04/22
Abati ElenaSaccomanno DomenicaAlberti ClaudiaAnastasia AlessiaGagliardi DeliaFerri EvelynArosio BeatriceD Angelo GraziaCima RossellaBassi Maria TeresaOldoni SamantaComi Giacomo PietroRizzo PaolaCorti Stefania Paola - In C. elegans, the epidermis and its overlying extracellular matrix form a primary protective barrier, functioning as the first line of defense against environmental factors. To properly develop those cellular boundaries, a tightly controlled interaction of many molecules and pathways is needed. Mutant alleles of paqr-2 and iglr-2 (lipid homeostasis), dpy-21 (membrane trafficking), and sma-1 (actin-binding spectrin) result in hermaphrodite tail tip defects suggesting that this simple 4-cell structure can serve as a sensitive model for the identification of pathways responsible for the establishment of cellular boundaries. With this in mind, we performed a small forward genetics screen of ∼800 ethyl methanesulfonate-mutagenized haploid genomes and identified 21 mutants with a Tail End Defects in the hermaphrodite phenotype. Whole genome sequencing of these mutants identified mutations in genes encoding either structural constituents of the cuticle itself (mostly collagen genes) or protein with regulatory functions. By using CRISPR/Cas9 we confirmed 6 novel alleles of ptr-18, paqr-2, nab-1, ncam-1, vab-9 and efn-4. We further characterized the loss of function allele ptr-18(et70), which encodes a patch domain-containing (PTCHD) protein homologous to human PTCHD1. ptr-18(et70) has a significant effect on growth and development of the worms, while also increasing membrane permeability. Lipidomics analysis revealed no major alterations in membrane lipid composition, implicating cuticle defects as the primary cause of the observed permeability phenotype. - Source: PubMed
Publication date: 2026/04/22
Radović UrošHenricsson MarcusBorén JanPilon Marc - Charcot Marie Tooth neuropathies arise from diverse genetic disturbances that impair axonal structure or myelin integrity. Variants in NEFL, encoding the light chain of neurofilaments, represent a rare cause of CMT and may disrupt filament assembly, axonal transport, and cytoskeletal stability. Because NEFL variants are uncommon and phenotypes variable, the pathogenic relevance of individual substitutions is often difficult to determine. Here, we identified a previously unreported missense variant, p.(Leu97Ile), in three affected individuals. In two, a second variant, p.(Arg206Ser), was present in cis. We therefore aimed to investigate the pathogenic impact of this allele constellation using clinical, biochemical, and structural approaches. - Source: PubMed
Oeztuerk MenekseWalli SaraMuhmann DavidChoueiri CatherineDobelmann VeraAbicht AngelaLeube BarbaraSchara-Schmidt UlrikeMeuth Sven GHorvath RitaLochmueller HannsRoos AndreasRuck Tobias - Alzheimer's disease (AD), a neurodegenerative disease primarily affecting older adults, is characterized by changes in memory, behavior, and language. Although gene expression varies during AD progression, the molecular mechanisms underlying this variation remain unclear. RNA sequencing indicates that most genes exhibit minimal gene-level differential expression in AD but may relate to neuronal function. Our comprehensive analysis revealed that neural cell adhesion molecule 1 (NCAM1) underwent alternative splicing (AS) in AD. Notably, an isoform switch occurred from the long isoform (L-NCAM1), typical under normal conditions, to the short isoform (S-NCAM1) in AD. S-NCAM1 lacked the intracellular domain in L-NCAM1. Additionally, the S-NCAM1-to-L-NCAM1 ratio increased in the hippocampus of amyloid precursor protein ()/PS1 mice compared to wild-type mice. Single-nucleus sequencing determined that this change in NCAM1 isoforms occurred predominantly within reactive astrocytes. Hence, AS may play a key role in AD development, while the L-NCAM1-to-S-NCAM1 ratio could serve as a biomarker. - Source: PubMed
Publication date: 2026/03/26
Li HaotianLiu SaiMiao DaoxinChen LongSun YuanWang GuangjiZhu ZheyingLi XinuoLu Qiulun - Tourette Syndrome (TS) is a neurodevelopmental disorder marked by motor and vocal tics. Recent evidence highlights the role of neurotrophic factors like glial cell line-derived neurotrophic factor (GDNF), which may play a key role in the pathogenesis and exacerbation of TS. Qufeng Zhidong Recipe (QFZDR), a traditional Chinese herbal formulation, has demonstrated clinical efficacy in the treatment of TS. However, its potential to enhance neurotrophic support and the underlying molecular mechanisms remain unclear. - Source: PubMed
Publication date: 2026/04/16
Wu XinnanJiang KeyuWu MinZhao XinZhang Xin